메뉴 건너뛰기
Pediatric Radiology
Volumn 38, Issue 5, 2008, Pages 559-562
Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings
Author keywords

DWI; MRI; Neonate; Pyruvate dehydrogenase deficiency
Indexed keywords

ARTICLE; CASE REPORT; GENE; GENE MUTATION; HOSPITAL ADMISSION; HUMAN; MALE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PDHA1 GENE; PRENATAL SCREENING; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY;
EID: 41849143811     PISSN: 03010449     EISSN: 14321998     Source Type: Journal    
DOI: 10.1007/s00247-007-0721-9     Document Type: Article
Times cited : (26)
References (8)
  • 1
    • 35348815056 scopus 로고    scopus 로고
    • Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene
    • Blanco-Barca O, Gomez-Lado C, Rodrigo-Saez E et al (2006) Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene. Rev Neurol 43:341-345
    • (2006) Rev Neurol , vol.43 , pp. 341-345
    • Blanco-Barca, O.1    Gomez-Lado, C.2    Rodrigo-Saez, E.3
  • 2
    • 0042974298 scopus 로고    scopus 로고
    • In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency
    • Zand DJ, Simon EM, Pulitzer SB et al (2003) In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency. AJNR 24:1471-1474
    • (2003) AJNR , vol.24 , pp. 1471-1474
    • Zand, D.J.1    Simon, E.M.2    Pulitzer, S.B.3
  • 3
    • 0347091766 scopus 로고    scopus 로고
    • Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: Evidence of antenatal origin of brain damage and possible etiology of infantile spasms
    • Wada N, Matsuishi T, Nonaka M et al (2004) Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms. Brain Dev 26:57-60
    • (2004) Brain Dev , vol.26 , pp. 57-60
    • Wada, N.1    Matsuishi, T.2    Nonaka, M.3
  • 4
    • 0037310675 scopus 로고    scopus 로고
    • A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene
    • Dey R, Mine M, Desguerre I et al (2003) A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene. Ann Neurol 53:273-277
    • (2003) Ann Neurol , vol.53 , pp. 273-277
    • Dey, R.1    Mine, M.2    Desguerre, I.3
  • 5
    • 33745142205 scopus 로고    scopus 로고
    • Females with PDHA1 gene mutations: A diagnostic challenge
    • Willemsen M, Rodenburg RJ, Teszas A et al (2006) Females with PDHA1 gene mutations: a diagnostic challenge. Mitochondrion 6:155-159
    • (2006) Mitochondrion , vol.6 , pp. 155-159
    • Willemsen, M.1    Rodenburg, R.J.2    Teszas, A.3
  • 6
    • 23944523787 scopus 로고    scopus 로고
    • Advanced MR techniques in the term-born neonate with perinatal brain injury
    • Rutherford MA, Ward P, Malamatentiou C (2005) Advanced MR techniques in the term-born neonate with perinatal brain injury. Semin Fetal Neonatal Med 10:445-460
    • (2005) Semin Fetal Neonatal Med , vol.10 , pp. 445-460
    • Rutherford, M.A.1    Ward, P.2    Malamatentiou, C.3
  • 7
    • 34548145323 scopus 로고    scopus 로고
    • Cranial ultrasound in metabolic disorders presenting in the neonatal period: Characteristic features and comparison with MR imaging
    • Leijser LM, de Vries LS, Rutherford MA et al (2007) Cranial ultrasound in metabolic disorders presenting in the neonatal period: characteristic features and comparison with MR imaging. AJNR 28:1223-1231
    • (2007) AJNR , vol.28 , pp. 1223-1231
    • Leijser, L.M.1    De Vries, L.S.2    Rutherford, M.A.3
  • 8
    • 0029851067 scopus 로고    scopus 로고
    • Pathophysiology of oligodendroglial excitotoxicity
    • Yoshioka A, Bacskai B, Pleasure D (1996) Pathophysiology of oligodendroglial excitotoxicity. J Neurosci Res 46:427-437
    • (1996) J Neurosci Res , vol.46 , pp. 427-437
    • Yoshioka, A.1    Bacskai, B.2    Pleasure, D.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.